Clinical Trials on Multiple Abnormalies

Total 33119 results

Geisinger Clinic
Patient-Centered Outcomes Research Institute

Completed

Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients

Intellectual Disability | Autism | Multiple Congenital Anomalies
Mayo Clinic

Not yet recruiting

AMNIOmics: A Prenatal Rapid Genome Validation Study

Family Members | Amniocentesis Affecting Fetus or Newborn | Multiple Anomalies of Fetus | Genetic Predisposition Suspected

United States
National Human Genome Research Institute (NHGRI)

Completed

The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition

Multiple Abnormalities

United States
ArQule, Inc. (a wholly owned subsidiary of Merck...

No longer available

Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies

Growth Disorders | Proteus Syndrome | PIK3CA-Related Overgrowth Spectrum (PROS)
University of California, San Francisco

Completed

Clinical Utility of Prenatal Whole Exome Sequencing (PWES)

Skeletal Anomalies | Multiple Anomalies | Structural Anomalies | Cardiac Anomalies | Central Nervous System Anomalies | Thorax Anomalies | Genito-urinary Anomalies | Gastrointestinal Anomalies

United States
National Human Genome Research Institute (NHGRI)

Completed

Phenotype and Etiology of Pallister-Hall Syndrome

Polydactyly | Malformations | Multiple Abnormalies

United States, Turkey
Baylor College of Medicine

Completed

Genetic Inclusion by Virtual Evaluation (GIVE)

Neurodevelopmental Disorders | Birth Defects | Multiple Congenital Anomaly

United States
Xinhua Hospital, Shanghai Jiao Tong University...

Unknown

Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Intellectual Disability | Rare Diseases | Multiple Congenital Anomaly

China
ITAB - Institute for Advanced Biomedical Technologies
Italian Society of Cardiology

Completed

Italian Registry of Cardiovascular Magnetic Resonance on Congenital Anomalies of the Coronary Arteries (ITACA-Registry) (ITACA)

Congenital Coronary Artery Abnormality

Italy
National Human Genome Research Institute (NHGRI)

Completed

Dose Finding Trial of MK-7075 in Children and Adults With Proteus Syndrome

Proteus Syndrome

United States
Queen Fabiola Children's University Hospital

Unknown

Correlation Between Optic Nerve Vessel Anomalies, Serum Angiogenic Factors and Renal Anomalies in Down Syndrome Children (DOPANUR)

Down Syndrome

Belgium
National Human Genome Research Institute (NHGRI)

Recruiting

MK-7075 (Miransertib) in Proteus Syndrome

Proteus Syndrome

United States
University Hospital, Grenoble

Not yet recruiting

Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound (FetUS)

Arthrogryposis Multiplex Congenita (AMC)
University Hospital, Grenoble

Recruiting

Pediatric and Adult Registry for Patients With ARThrogryposis (PARART)

Arthrogryposis Multiplex Congenita (AMC)

France
University of California, San Francisco
United States Department of Defense

Recruiting

Assessing Changes in Multi-parametric MRI in MS Patients Taking Clemastine Fumarate as a Myelin Repair Therapy (ReVIVE)

Multiple Sclerosis, Chronic Progressive | Multiple Sclerosis, Relapsing-Remitting | Multiple Sclerosis (MS) | Multiple Sclerosis Relapse | Multiple Sclerosis, Primary Progressive | Multiple Sclerosis Brain Lesion | Multiple Sclerosis Benign

United States
Firat University
Pamukkale University

Unknown

To Investigate the Effect of Aerobic Exercise on Neurophysiological Values and Functionality in Individuals With Multiple Sclerosis.

Multiple Sclerosis, Relapsing-Remitting | Aerobic Exercise | FNDC5 | Irisin Hormone | EMG: Axonal Abnormality
University Hospital, Grenoble

Completed

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE)

Pediatric ALL | Arthrogryposis Multiplex Congenita | AMC-Arthrogryposis Multiplex Congenita

France
National Human Genome Research Institute (NHGRI)
Children's National Research Institute; Uniformed Services University of the...

Recruiting

Study of Proteus Syndrome and Related Congenital Disorders

Proteus Syndrome | PIK3CA Related Overgrowth Spectrum

United States
Manchester University NHS Foundation Trust
FDNA Inc.

Completed

Evaluating Face-Recognition Technology in Syndrome Diagnosis

Inborn Errors of Metabolism | Dysmorphic Features | Multiple Anomalies

United Kingdom
Merck Sharp & Dohme LLC

Active, not recruiting

A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)

PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome (PS)

United States, Australia, Brazil, Italy, United Kingdom
ArQule, Inc. (a wholly owned subsidiary of Merck...
Worldwide Clinical Trials

Terminated

Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002) (MOSAIC)

PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome

United States, Australia, Italy, Spain
National Heart, Lung, and Blood Institute (NHLBI)

Completed

dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

Pentalogy of Cantrell

United States
Children's Hospital of Fudan University
Second Affiliated Hospital of Wenzhou Medical University; Guangzhou Women and... and other collaborators

Recruiting

Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units

Genetic Disease | Congenital Malformation | Multiple Malformation

China
University Hospital, Bordeaux

Completed

Pathophysiology Analysis of "Costello Syndrome" on Cellular Models (COSTELLO)

Costello Syndrome

France
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Mutations in Genes Associated With Pentalogy of Cantrell

Pentalogy of Cantrell

United States
University of Johannesburg

Completed

Routine Versus Selective Midtrimester Ultrasound in a Poorly Resourced Setting: a Cluster Randomised Controlled Trial

Fetal Congenital Abnormalities | Prolonged Pregnancy | Multiple Pregnancy

South Africa
Dermelix Biotherapeutics, LLC.

Withdrawn

A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED

XLHED

United States
Fondation Ophtalmologique Adolphe de Rothschild
Institut National de la Santé Et de la Recherche Médicale, France

Terminated

Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 (PRIMAculture)

Ectodermal Dysplasia

France
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Terminated

Serum-Free Thymus Transplantation in DiGeorge Anomaly (SerumFree)

DiGeorge Anomaly
UConn Health

Recruiting

Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) (ACC)

Aplasia Cutis Congenita

United States
Children's Hospital of Chongqing Medical University
The First Hospital of Jilin University; Xuzhou Maternity and Child Health Care... and other collaborators

Completed

The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects

Genetic Diseases | Birth Defect | Congenital Malformation | Multiple Malformation | Newborn; Fit

China
Children's Healthcare of Atlanta
Emory University; Brigham and Women's Hospital; University of California, San... and other collaborators

Withdrawn

Genes Mutation Pentalogy of Cantrell

Pentalogy of Cantrell | Mutations in Non-muscle Genes

United States
Koen Cuypers
BOF-BILA

Not yet recruiting

Investigation The Effect of Conventional Vs. Individualized tDCS Intensity to Achieve Uniform E-Fields

Multiple Sclerosis | Neurophysiologic Abnormality
Rennes University Hospital

Completed

Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects. (EXOMEDIANE)

Holoprosencephaly

France
National Human Genome Research Institute (NHGRI)

Completed

Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly

Holoprosencephaly

United States
Centre Hospitalier Universitaire Dijon

Unknown

Type 1 Multiple Endocrine Neoplasia Cohort Study (MEN1-GTEcohort)

Type 1-Multiple Endocrine Neoplasia Syndrome

France
Aljazeera Hospital
Kasr El Aini Hospital; National Research Centre, Egypt

Unknown

Perinatal Diagnosis of GIT Anomalies

Fetal Anomalies

Egypt
Centre Hospitalier Universitaire Dijon

Recruiting

Study and Follow-up of Multiple Endocrine Neoplasia Type 1 (GENEM)

Multiple Endocrine Neoplasia

France
University of Ljubljana
Novartis; Izola General Hospital; University Medical Centre Ljubljana; General... and other collaborators

Completed

Artificial Intelligence in Predicting Progression in Multiple Sclerosis Study (AI ProMiS)

Multiple Sclerosis | Multiple Sclerosis Lesion | Multiple Sclerosis Brain Lesion

Slovenia
Oregon Health and Science University

Terminated

Melatonin Levels in Smith Magenis Syndrome (SMS)

Chromosome Disorders

United States
National Human Genome Research Institute (NHGRI)

Completed

Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

Coronary Artery Disease | Proteus Syndrome | Familial Isolated Hyperparathyroidism | Coffin - Sins Syndrome | Dubouitz Syndrome

United States
Xiaofan Zhu

Available

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

Fanconi Anemia | Autosomal or Sex Linked Recessive Genetic Disease | Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. | Hematopoiesis Maintainance.

China
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Thymus Transplantation With Immunosuppression (884)

DiGeorge Syndrome | DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge Syndrome

United States
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Approved for marketing

Thymus Transplantation Safety-Efficacy

DiGeorge Syndrome | DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge Syndrome

United States
Sohag University

Not yet recruiting

Outcome of Surgical Fixation of Multiple Fractured Ribs at Sohag University Hospital

Multiple Fractures of Ribs
National Human Genome Research Institute (NHGRI)

Completed

Clinical and Molecular Investigations Into Ciliopathies

Ciliopathy

United States
Assiut University

Recruiting

Clinical Presentations and Surgical Outcome of Obstructive Müllerian Anomalies

Mullerian Duct Anomalies

Egypt
University of California, San Francisco

Enrolling by invitation

Genomic Sequencing for Evaluation of Fetal Structural Anomalies

Fetal Structural Anomalies

United States
University of South Florida
Boston Children's Hospital

Completed

Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

PTEN Gene Mutation

United States
University Hospital, Basel, Switzerland

Recruiting

Leflunomide Treatment for MEN1 Patients - the LUMEN1 Trial (LUMEN1)

MEN1 Gene Mutation

Switzerland

Clinical Trials on Multiple Abnormalies

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Estonia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

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